Trait

Branchial anomaly

Congenital developmental defect arising from the primitive branchial apparatus.

HPO HP:0009794

Also called: Abnormality of branchial apparatus, Abnormality of branchial arch, Branchial abnormality, Branchial anomalies
Body system: Abnormality of head or neck

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7 genes linked to Branchial anomaly

Changes in these genes cause rare conditions in which Branchial anomaly is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
EYA1EYA transcriptional coactivator and phosphatase 1	Often (30–79%)	In 1 condition
SIX1SIX homeobox 1	Often (30–79%)	In 1 condition
SIX5SIX homeobox 5	Often (30–79%)	In 1 condition
HNRNPKheterogeneous nuclear ribonucleoprotein K	Sometimes (5–29%)	In 2 conditions
WACWW domain containing adaptor with coiled-coil	Sometimes (5–29%)	In 1 condition
SF3B2splicing factor 3b subunit 2	Not recorded	In 1 condition
TFAP2Atranscription factor AP-2 alpha	Not recorded	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Narrower traits

Broader traits

Abnormal neck morphology

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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